alexa The Genomics of Calcium Nephrolithiasis | Open Access Journals
ISSN: 2153-0645
Journal of Pharmacogenomics & Pharmacoproteomics
Like us on:
Make the best use of Scientific Research and information from our 700+ peer reviewed, Open Access Journals that operates with the help of 50,000+ Editorial Board Members and esteemed reviewers and 1000+ Scientific associations in Medical, Clinical, Pharmaceutical, Engineering, Technology and Management Fields.
Meet Inspiring Speakers and Experts at our 3000+ Global Conferenceseries Events with over 600+ Conferences, 1200+ Symposiums and 1200+ Workshops on
Medical, Pharma, Engineering, Science, Technology and Business

The Genomics of Calcium Nephrolithiasis

Eric Terry Wang1 , Yii-Her Chou2 *, Wei-Chiao Chang1,3*

1Master Program for Clinical Pharmacogenomics and Pharmacoproteomics, School of Pharmacy, Taipei Medical University, Taipei, Taiwan

2Department of Urology, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan

3Department of Clinical Pharmacy, Taipei Medical University, Taipei, Taiwan

*Corresponding Author:
Wei-Chiao Chang
Master Program for Clinical Pharmacogenomics and Pharmacoproteomics
School of Pharmacy, Taipei Medical University, Taipei
Taiwan, 250 Wu-Hsing Street, Taipei 110, Taiwan
Tel: 886-2-27361661
Email: [email protected]

Received date: November 28, 2013; Accepted date: November 28, 2013; Published date: December 06, 2013

Citation: Wang ET, Chou YH, Chang WC (2013) The Genomics of Calcium Nephrolithiasis. J Pharmacogenomics Pharmacoproteomics 4:e136. doi: 10.4172/2153-0645.1000e136

Copyright: © 2013 Wang ET, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Visit for more related articles at Journal of Pharmacogenomics & Pharmacoproteomics

Nephrolithiasis is the process of forming stones in the kidneys from the crystal aggregation of the minerals contained in urine. Calcium of stone is mostly (80%) from calcium oxalate or calcium phosphate, causing kidney diseases and obstruction of the urinary tract, and have a high reoccurrence risk [1]. It is well established that calcium nephrolithiasis is the most prevalent form of kidney stones, and is a worldwide health problem affected by genes, the environment, diet and lifestyle [2]. To manage calcium nephrolithiasis, diet and medical treatment should be considered. Dogliotti et al. [3] stated that greater citrate and water consumption can reduce the formation of calcium crystals in the kidneys by binding free calcium ions and help excretion of calcium. Xu et al. [4] suggested that thiazide treatment is the standard therapy for calcium stone patients with idiopathic hypercalciuria. However, the functional role of genetic factors in calcium nephrolithiasis formation is still unclear.

Genetic analysis approaches provide powerful molecular detection and interpretation in the mechanism of calcium nephrolithiasis. For example, scientists discovered many genes that are related to calcium nephrolithiasis, such as vitamin D receptor (VDR) [5], fibroblast growth factor 23 (FGF23) [6] and claudin 14 (CLDN14) [7]. In 1999, Ruggiero et al. [8] firstly reported that VDR polymorphism was associated with a higher urinary calcium excretion. Further experiments supported the involvement of vitamin D receptor in calcium nephrolithiasis by investigating FGF23. FGF23 can influence vitamin D metabolism and phosphate reabsorption [6]. Overexpression of FGF23 was observed in calcium nephrolithiasis patients [9]. In 2009, genome-wide association study (GWAS) was conducted to identify the potential genes as biomarkers for calcium nephrolithiasis [7]; CLDN14 was detected to be an important one. Collectively, evidence has accumulated to suggest that genetic polymorphism plays a role in susceptibility to calcium nephrolithiasis.

Recent genetic association studies indicated the importance of calcium channels in pathogenesis of calcium nephrolithiasis [10]. The candidate genes include transient receptor potential channels subtype V (TRPV) [11], calcium release-activated calcium channel protein 1 (ORAI1) [12], and the calcium sensing receptor (CaSR) gene [13]. In 2008, Suzuki et al. [11] reported that haplotypes of epithelial calcium channel TRPV6 are risk factors for renal calcium stone formation. The haplotypes may increase the calcium entry and further cause hypercalciuria. In 2010, store-operated calcium channel was reported to associate with calcium nephrolithiasis. Chou et al. [12] discovered genetic polymorphisms of ORAI1, a subunit of the store-operated calcium channel, that associated with calcium nephrolithiasis. In addition, calcium-sensing receptor has been considered as a critical target for calcium nephrolithiasis [13]. The activation of CaSR gene can inhibit parathyroid hormone secretion and tubular calcium reabsorption, which controls serum calcium levels [14]. A SNP (rs17251221) in CaSR was found to associate with stone multiplicity in calcium nephrolithiasis [13]. In 2013, Vezzoli et al. [15] further indicated another SNP rs6776158 in CaSR gene promoter that associated with calcium nephrolithiasis. These observations imply that CaSR-mediated calcium signaling is a crucial mediator of calcium nephrolithiasis.

In conclusion, genetic polymorphism plays a critical role in calcium nephrolithiasis. In light of the fact that genome sequencing is a very powerful tool and has been used in clinical application, pharmacogenomics is a rational therapeutic approach aimed at treating such disorders.

References

Select your language of interest to view the total content in your interested language
Post your comment

Share This Article

Relevant Topics

Recommended Conferences

Article Usage

  • Total views: 11526
  • [From(publication date):
    November-2013 - Aug 20, 2017]
  • Breakdown by view type
  • HTML page views : 7760
  • PDF downloads :3766
 

Post your comment

captcha   Reload  Can't read the image? click here to refresh

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords